Canonical Allele Identifier: CA380700984
Community Standard Title: NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter)
Gene: SERPING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.57606530C>T , CM000673.2:g.57606530C>T GRCh38
NC_000011.9:g.57374003C>T , CM000673.1:g.57374003C>T GRCh37
NC_000011.8:g.57130579C>T NCBI36
NG_009625.1:g.13977C>T , LRG_105:g.13977C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000062.3:c.1012C>T MANE Select NP_000053.2:p.Gln338Ter
ENST00000278407.9:c.1012C>T MANE Select ENSP00000278407.4:p.Gln338Ter
NM_000062.2:c.1012C>T , LRG_105t1:c.1012C>T NP_000053.2:p.Gln338Ter
NM_001032295.1:c.1012C>T NP_001027466.1:p.Gln338Ter
NM_001032295.2:c.1012C>T NP_001027466.1:p.Gln338Ter
ENST00000278407.8:c.1012C>T ENSP00000278407.4:p.Gln338Ter
ENST00000340687.10:c.1012C>T ENSP00000341861.6:p.Gln338Ter
ENST00000378323.8:c.1027C>T ENSP00000367574.4:p.Gln343Ter
ENST00000378324.6:c.856C>T ENSP00000367575.2:p.Gln286Ter
ENST00000403558.1:c.1141C>T ENSP00000384420.1:p.Gln381Ter
ENST00000528996.1:c.124C>T ENSP00000431226.1:p.Gln42Ter
ENST00000528996.2:c.59-5196C>T ENSP00000431226.2:n.59-5196C>T
ENST00000531133.5:c.513C>T ENSP00000435431.1:n.513C>T
ENST00000531605.2:c.*788C>T ENSP00000503752.1:n.*788C>T
ENST00000531797.5:c.*54+4361C>T ENSP00000432554.1:n.*54+4361C>T
ENST00000619430.1:c.349-5375C>T ENSP00000478572.1:n.349-5375C>T
ENST00000619430.2:c.808C>T ENSP00000478572.2:p.Gln270Ter
ENST00000676670.1:c.1012C>T ENSP00000504807.1:p.Gln338Ter
ENST00000676741.1:n.2094C>T
ENST00000677624.1:c.*432C>T ENSP00000503979.1:n.*432C>T
ENST00000677625.1:c.1012C>T ENSP00000502857.1:p.Gln338Ter
ENST00000677856.1:n.1265C>T
ENST00000677915.1:c.685+4361C>T ENSP00000503118.1:n.685+4361C>T
ENST00000678533.1:c.*566C>T ENSP00000503873.1:n.*566C>T
ENST00000678592.1:c.1012C>T ENSP00000504424.1:p.Gln338Ter